SR2310

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Malattia Leventinese (IIJ)

Male

SR2310

Malattia Leventinese (IIJ)

Male

Highlighted Images

OD	OS
Age at visit: 25 years (Visit 2)
20/20 sc	20/15 sc

History

This 25 year old man had fundus abnormalities noticed incidentally on a routine eye exam.

Pedigree

Age at visit: 25 years

OD		OS
20/20 sc*		20/15 sc*

OD		OS
20/20 sc* OCT Stack		20/15 sc* OCT Stack

OD		OS
20/20 sc*		20/15 sc*

*Acuities for this visit are inferred from other visits in this case.

Age at visit: 25 years (Visit 2)

OD		OS
20/20 sc		20/15 sc

OD		OS
20/20 sc		20/15 sc

OD		OS
20/20 sc OCT Stack		20/15 sc OCT Stack

OD		OS
20/20 sc		20/15 sc

OD		OS
20/20 sc		20/15 sc

Diagnosis & molecular findings

Disease	Gene	Allele 1 variant(s)	Allele 2 variant(s)	Inheritance mode
Malattia Leventinese	EFEMP1	Arg345Trp CGG>TGG		AD

Disease:

Malattia Leventinese

Gene:

EFEMP1

Allele 1:

Arg345Trp CGG>TGG

Allele 2:

Inheritance:

Cite this case

Case

SR2310

Student Mode

Malattia Leventinese (IIJ)

Male

Male

Hidden

SR2310

Student Mode

Malattia Leventinese (IIJ)

Male

Male

Highlighted Images

History

Pedigree

Diagnosis & molecular findings

Case

SR2310

Student Mode

Malattia Leventinese (IIJ)

Male

Male

Hidden

SR2310

Student Mode

Malattia Leventinese (IIJ)

Male

Male

Highlighted Images

History Collapse

Pedigree Collapse

Diagnosis & molecular findings

History

Pedigree